Incidental Mutation 'R2238:Spata4'
ID 240239
Institutional Source Beutler Lab
Gene Symbol Spata4
Ensembl Gene ENSMUSG00000031518
Gene Name spermatogenesis associated 4
Synonyms SRG2, TSARG2, 1700001N01Rik
MMRRC Submission 040238-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R2238 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 55053816-55063133 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 55055664 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Threonine at position 185 (K185T)
Ref Sequence ENSEMBL: ENSMUSP00000033917 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033917]
AlphaFold Q8K3V1
Predicted Effect probably benign
Transcript: ENSMUST00000033917
AA Change: K185T

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000033917
Gene: ENSMUSG00000031518
AA Change: K185T

DomainStartEndE-ValueType
low complexity region 24 37 N/A INTRINSIC
Pfam:CH_2 54 149 1.1e-37 PFAM
Pfam:CAMSAP_CH 56 136 2.9e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162770
Meta Mutation Damage Score 0.1729 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 98% (59/60)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm1 T A 4: 144,246,469 (GRCm39) V5E possibly damaging Het
Acaca T C 11: 84,282,331 (GRCm39) probably benign Het
Adam18 T C 8: 25,136,303 (GRCm39) E406G probably benign Het
Adgrl4 A T 3: 151,205,779 (GRCm39) I164F probably damaging Het
Arhgap36 G T X: 48,582,282 (GRCm39) V60L possibly damaging Het
Bmi1 T C 2: 18,688,225 (GRCm39) probably benign Het
Carf T C 1: 60,187,193 (GRCm39) S599P probably benign Het
Cdc37 G A 9: 21,053,829 (GRCm39) Q176* probably null Het
Clca3a1 T A 3: 144,457,766 (GRCm39) I373F possibly damaging Het
Clnk A G 5: 38,921,694 (GRCm39) probably benign Het
Cnot1 T C 8: 96,496,149 (GRCm39) I342V probably benign Het
Dact2 A T 17: 14,417,312 (GRCm39) L296Q probably damaging Het
Dctn2 C T 10: 127,112,257 (GRCm39) T123I probably damaging Het
Deup1 A C 9: 15,486,597 (GRCm39) I455S probably damaging Het
Dnmbp A G 19: 43,857,303 (GRCm39) V957A possibly damaging Het
Emilin2 T C 17: 71,581,734 (GRCm39) R331G possibly damaging Het
Eomes A G 9: 118,311,359 (GRCm39) D394G probably damaging Het
Epn1 A G 7: 5,100,601 (GRCm39) N518S probably damaging Het
Gbf1 T C 19: 46,152,057 (GRCm39) I30T probably benign Het
Gcc1 A G 6: 28,420,462 (GRCm39) V285A probably benign Het
Gopc T C 10: 52,229,499 (GRCm39) H188R probably damaging Het
Herc6 A G 6: 57,631,386 (GRCm39) N693D probably benign Het
Hipk2 A G 6: 38,706,850 (GRCm39) probably benign Het
Htatsf1 G T X: 56,111,864 (GRCm39) D642Y unknown Het
Ints1 G A 5: 139,750,955 (GRCm39) T814M possibly damaging Het
Kdm6a T C X: 18,065,476 (GRCm39) F104S probably damaging Het
Kdr T A 5: 76,110,179 (GRCm39) Y936F possibly damaging Het
Ly6k T C 15: 74,669,018 (GRCm39) E87G probably benign Het
Lyst A G 13: 13,917,848 (GRCm39) N3303D probably benign Het
Mindy4 T C 6: 55,278,055 (GRCm39) F633S probably damaging Het
Msl2 T A 9: 100,978,569 (GRCm39) N314K probably benign Het
Ncapd3 A G 9: 26,978,320 (GRCm39) T840A probably benign Het
Neil3 T C 8: 54,052,311 (GRCm39) D429G possibly damaging Het
Nt5c1b C A 12: 10,425,558 (GRCm39) T309K probably damaging Het
Nt5c1b A G 12: 10,440,108 (GRCm39) Y550C probably damaging Het
Or10v5 T C 19: 11,805,814 (GRCm39) D192G probably damaging Het
Pabpc4l A C 3: 46,401,137 (GRCm39) V169G probably damaging Het
Pcgf5 A T 19: 36,414,754 (GRCm39) N105I probably damaging Het
Phka2 A G X: 159,324,408 (GRCm39) E254G probably damaging Het
Pik3cb A G 9: 98,923,081 (GRCm39) Y984H probably damaging Het
Ptprz1 A T 6: 22,987,376 (GRCm39) Q387L probably damaging Het
Rassf8 T C 6: 145,762,910 (GRCm39) V419A probably damaging Het
Rnf148 T C 6: 23,654,345 (GRCm39) Y217C probably benign Het
Sec24d T A 3: 123,143,543 (GRCm39) probably null Het
Sesn3 T C 9: 14,219,761 (GRCm39) V50A probably benign Het
Sgcd T C 11: 47,023,509 (GRCm39) N99D possibly damaging Het
Sncaip T C 18: 53,001,619 (GRCm39) S47P probably damaging Het
Sp2 C T 11: 96,846,762 (GRCm39) C527Y probably damaging Het
Spin2c A G X: 152,616,672 (GRCm39) I162V probably damaging Het
Srcin1 T C 11: 97,425,645 (GRCm39) T471A probably benign Het
Stac G A 9: 111,519,190 (GRCm39) probably benign Het
Tcaf3 A G 6: 42,570,262 (GRCm39) Y497H probably benign Het
Tmem40 C T 6: 115,708,038 (GRCm39) W150* probably null Het
Tmem59l T C 8: 70,937,772 (GRCm39) T203A probably damaging Het
Tnfsf11 A T 14: 78,537,421 (GRCm39) S81T possibly damaging Het
Topaz1 C T 9: 122,600,212 (GRCm39) T984I probably benign Het
Vmn1r204 A G 13: 22,740,993 (GRCm39) H208R probably benign Het
Vmn2r98 T A 17: 19,286,213 (GRCm39) M237K probably damaging Het
Other mutations in Spata4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01486:Spata4 APN 8 55,055,341 (GRCm39) splice site probably benign
IGL02418:Spata4 APN 8 55,062,978 (GRCm39) missense probably benign 0.00
IGL02685:Spata4 APN 8 55,053,963 (GRCm39) missense probably benign 0.02
IGL03172:Spata4 APN 8 55,055,440 (GRCm39) missense probably benign 0.00
R0885:Spata4 UTSW 8 55,053,879 (GRCm39) missense probably damaging 0.98
R2237:Spata4 UTSW 8 55,055,664 (GRCm39) missense probably benign 0.06
R2239:Spata4 UTSW 8 55,055,664 (GRCm39) missense probably benign 0.06
R4430:Spata4 UTSW 8 55,054,878 (GRCm39) missense probably benign 0.03
R4915:Spata4 UTSW 8 55,055,471 (GRCm39) splice site probably null
R6508:Spata4 UTSW 8 55,053,887 (GRCm39) missense probably benign
R6809:Spata4 UTSW 8 55,055,368 (GRCm39) missense possibly damaging 0.82
R7148:Spata4 UTSW 8 55,055,585 (GRCm39) missense probably benign 0.17
R8851:Spata4 UTSW 8 55,062,935 (GRCm39) missense probably benign 0.04
R9071:Spata4 UTSW 8 55,055,742 (GRCm39) missense probably damaging 1.00
R9339:Spata4 UTSW 8 55,053,899 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GGTACCTGAAATACTGATACAGGAG -3'
(R):5'- TGATTTCAGAAGCACTCACCTG -3'

Sequencing Primer
(F):5'- GTAGTTTGAAATTTTCCAACAGCAC -3'
(R):5'- TGTCTCCAGGGAAGGCTTAC -3'
Posted On 2014-10-15